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+ Genes 11

+ Genes associated with diseases 5

Genes at Omim

DSP, HLA-DQB1, INF2, MYT1L, SLC45A1,
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
HLA-DQB1 {Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
{Multiple sclerosis, susceptibility to, 1}, 126200 (3)
INF2 Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
Glomerulosclerosis, focal segmental, 5, 613237 (3)
MYT1L Mental retardation, autosomal dominant 39, 616521 (3)
SLC45A1 Intellectual developmental disorder with neuropsychiatric features, 617532 (3)

Genes at Clinical Genomics Database

DSP, INF2, MYT1L,
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
MYT1L Mental retardation, autosomal dominant 39

Genes at HGMD

Summary

Number of Variants: 18
Number of Genes: 11

Export to: CSV
  • Page 1 of 1

ANAPC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 2 rs939797
dbSNP Clinvar 		112536264 90.4735 G T,C PASS 2/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.00278 0.09 0.07 None None None None None None ANAPC1|0.14646446|43.53%

CHD9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 16 rs6499548
dbSNP Clinvar 		53341748 868.827 T G,C PASS 2/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.82688 0.82690 0.17125 0.00 None None None None None None CHD9|0.594618724|11.96%

DDX18
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 2 rs2303348
dbSNP Clinvar 		118583940 254.298 C T,A PASS 2/1 11 SYNONYMOUS_CODING LOW None 0.30371 0.30370 0.29602 None None None None None None DDX18|0.367409007|22.92%

DSP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 6 rs2076300
dbSNP Clinvar 		7584617 387.02 C T,G PASS 2/1 45 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21166 0.21170 0.30225 None None None None None None DSP|0.573194355|12.87%

HLA-DQB1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 6 rs12722115
dbSNP Clinvar 		32632782 846.56 G C,A PASS 2/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.01600 0.03 0.00 None None None None None None HLA-DQB1|0.132406558|45.55%

INF2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 14 rs1128840
dbSNP Clinvar 		105180706 3848.57 A G,C PASS 2/1 247 SYNONYMOUS_CODING LOW None 0.20967 0.69490 0.35022 None None None None None None INF2|0.011319835|79.76%

KRTAP10-7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 21 rs369720
dbSNP Clinvar 		46021494 445.0 A G,C PASS 2/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.77875 0.77880 0.18622 1.00 0.00 None None None None None None TSPEAR|0.035753201|67.21%,KRTAP10-7|0.002694057|89.24%

MYT1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 2 rs6728368
dbSNP Clinvar 		1842968 1114.7 T C,A PASS 2/1 118 SYNONYMOUS_CODING LOW None 0.08407 0.08407 0.43140 None None None None None None MYT1L|0.383642519|21.8%

OR5H6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 3 rs2173236
dbSNP Clinvar 		97983391 2523.53 C T,G PASS 2/1 199 NON_SYNONYMOUS_CODING MODERATE None 0.30192 0.30190 0.35791 0.09 0.00 None None None None None None OR5H6|0.001976143|91.06%

SLC45A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 1 rs1058619
dbSNP Clinvar 		8390495 975.2 A G,C PASS 2/1 106 SYNONYMOUS_CODING LOW None 0.77636 0.77640 0.25636 None None None None None None SLC45A1|0.069281778|57.66%

TAF1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 2 rs400917
dbSNP Clinvar 		10045014 330.55 C T,A PASS 2/1 17 STOP_GAINED HIGH None 0.81969 0.81970 0.14824 None None None None None None TAF1B|0.089989195|53.23%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWM 5 rs376809293,rs11279828
dbSNP Clinvar 		167858462 668.6 TC... TC... PASS 2/1 51 None None None 0.95228 0.95230 None None None None None None WWC1|0.190460752|37.77%
View allfamilies AWM 5 rs383985
dbSNP Clinvar 		180055862 1664.22 T G,C PASS 2/1 82 None None None 0.05371 0.05371 0.41372 None None None None None None FLT4|0.206670635|35.92%
View allfamilies AWM 5 rs6868591,rs200400097
dbSNP Clinvar 		38958968 727.56 A C,AC PASS 2/1 51 None None None 0.04533 0.04533 0.06122 None None None None None None RICTOR|0.95955832|1.99%
View allfamilies AWM 3 rs777617411
dbSNP Clinvar 		52676065 327.99 CAA TA... PASS 2/1 19 None None None None None None None None None PBRM1|0.664761336|9.54%
View allfamilies AWM 1 . 205687348 133.21 CT... CT... PASS 2/1 15 None None None None None None None None None NUCKS1|0.578718378|12.65%
View allfamilies AWM 17 rs2253369
dbSNP Clinvar 		48272055 298.14 C T,G PASS 2/1 28 None None None 0.69728 0.69730 0.27782 None None None None None None COL1A1|0.749779298|7.09%
View allfamilies AWM 1 rs8658
dbSNP Clinvar 		156706559 3608.09 A G,C PASS 2/1 202 None None None 0.32089 0.32090 0.28395 None None None None None None RRNAD1|0.119124739|47.57%
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